Varaico: Literature-Extracted Genetic Variants

MYO3A

296 papers

RefSeq Summary

The protein encoded by this gene belongs to the myosin superfamily. Myosins are actin-dependent motor proteins and are categorized into conventional myosins (class II) and unconventional myosins (clas...

Pfam Domains

Pkinaseaa 21–287UCSCProtein kinase domain

Myosin_headaa 340–1041UCSCMyosin head (motor domain)

IQaa 1083–1101UCSCIQ calmodulin-binding motif

IQaa 1347–1367UCSCIQ calmodulin-binding motif

Gene Aliases

HGNC Name

myosin IIIA

HGNC Previous Symbol

DFNB30

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_017433.5

p.G153R

c.457G>C

Surrounding Variants

1 paper

NM_017433.5

p.G153S

c.457G>A

1 paper

NM_017433.5

p.G153V

c.458G>T

1 paper

NM_017433.5

p.D150N

c.448G>A

1 paper

NM_017433.5

p.G162C

c.484G>T

7 papers

NM_017433.5

p.H142Q

c.426T>A

7 papers

NM_017433.5

p.H142Q

c.426T>G

3 papers

NM_017433.5

p.H142Y

c.424C>T

1 paper

NM_017433.5

p.V167I

c.499G>A

1 paper

NM_017433.5

p.L138H

c.413T>A

1 paper

NM_017433.5

p.L138P

c.413T>C

1 paper

NM_017433.5

p.L138_N143del6

c.412_428del18

1 paper

NM_017433.5

p.F169L

c.505T>C